GTR Home > Conditions/Phenotypes > Usher syndrome, type 1D

Summary

Excerpted from the GeneReview: Usher Syndrome Type I
Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Unless fitted with a cochlear implant, individuals do not typically develop speech. Retinitis pigmentosa (RP), a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity.

Genes See tests for all associated and related genes

  • Also known as: CDHR23, PITA5, USH1D, CDH23
    Summary: cadherin related 23

  • Also known as: CDHR15, DFNB23, USH1F, PCDH15
    Summary: protocadherin related 15

Clinical features

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